List of variants reported as pathogenic for cardiomyopathy by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 61

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HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00501
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)	rs727503195	0.00005
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)	rs758509148	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)	rs2856655	0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)	rs767987619	0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His)	rs371675217	0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)	rs1419374180	0.00001
NM_001927.4(DES):c.757C>T (p.Gln253Ter)	rs1187516594	0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	rs121913237	0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	rs397507529	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)	rs200920510	0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	rs777219451	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)	rs1597534120
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)	rs727503788
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)	rs796065318
NM_000126.4(ETFA):c.27_30del	rs2142101078
NM_000152.5(GAA):c.1559A>T (p.Asn520Ile)
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)	rs1221156663
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312
NM_000203.5(IDUA):c.1395dup (p.Gly466fs)	rs1386109118
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	rs2153023287
NM_000231.3(SGCG):c.525del (p.Phe175fs)	rs786204786
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)	rs775404728
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)	rs397516088
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	rs397516089
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)	rs778760498
NM_000432.4(MYL2):c.3+2T>C	rs111373423
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	rs397516997
NM_001005242.3(PKP2):c.2446-1G>A
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter)	rs483352991
NM_001267550.2(TTN):c.106160C>G (p.Ser35387Ter)	rs2154132755
NM_001267550.2(TTN):c.106375-2A>G	rs1553482872
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs)	rs2154244761
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)	rs2051361827
NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)
NM_001943.5(DSG2):c.769C>T (p.Gln257Ter)	rs794728083
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	rs11554290
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	rs121918468
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)	rs121918458
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	rs121918464
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	rs121913355
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	rs121913369
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)	rs180177042
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	rs397516903
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)	rs764266722
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	rs104894228
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)	rs267607079
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194

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